{"orpha":228174,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2N","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2N"],"definition":"A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228174/","orphanet_url":"https://www.orpha.net/en/disease/detail/228174","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2N","synonyms":["CMT2N"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2N (CMT2N) est une forme légère de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale, caractérisée par une perte sensorielle distale des jambes et une faiblesse musculaire pouvant être asymétrique. Les réflexes tendineux patellaires sont diminués et les achilléens absents. La progression de la maladie est lente."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2N","synonyms":["CMT2N"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2N (CMT2N) ist eine milde Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Sie ist gekennzeichnet durch distale, evtl. auch asymmetrische sensorische Störungen und Muskelschwäche der Beine. Der Patellasehnensreflex ist abgeschwächt, der Achillesehnensreflex ist ausgelöscht. Die Krankheit ist langsam progredient"},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2N","synonyms":["CMT2N"],"definition":"Es una forma axonal leve de la enfermedad de Charcot-Marie-Tooth, una neuropatía periférica sensorial y motora, que se caracteriza por pérdida sensorial distal en las piernas y debilidad que puede ser asimétrica. Los reflejos tendinosos están reducidos en las rodillas y ausentes en los tobillos. Su progresión es lenta."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2N","synonyms":["CMT2N"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2N (CMT2N) è una forma lieve della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica, caratterizzata da perdita sensoriale distale a livello delle gambe e debolezza che può essere asimmetrica. I riflessi tendinei sono ridotti a livello delle ginocchia e assenti a livello delle caviglie. La progressione è lenta."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2N","synonyms":["CMT2N"],"definition":"Een milde vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door zintuiglijk verlies en zwakte in distale benen die asymmetrisch kunnen zijn. Peesreflexen zijn verminderd in de knieën en afwezig in de enkels. Progressie is traag."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2N"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2N","synonyms":["CMT2N"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2N","synonyms":["CMT2N","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2N"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2N","synonyms":["CMT2N"],"definition":"A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow."},"zh":{"name":"常染色体显性遗传夏科-马里-图斯病2N型","synonyms":["CMT2N"],"definition":"一种轻度轴索性腓骨肌萎缩（夏科-马里-图斯病），一种外周感觉运动性神经病，其特征是腿部远端感觉丧失和不对称性无力。膝关节腱反射减弱，脚踝腱反射消失。本病进展缓慢。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2N","synonyms":["CMT2N"]}},"xrefs":[{"source":"OMIM","code":"613287","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"821001900"},{"source":"MONDO","code":"0013212","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750090","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AARS1","name":"alanyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"20","ensembl":"ENSG00000090861","omim":"601065","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}